Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone

Evidence for a Founder Effect in Patients of British Descent

Gavin Lucas, Lynne Hocking, Anna Daroszewska, T. Cundy, G. C. Nicholson, J. P. Walsh, W. D. Fraser, C. Meier, M. J. Hooper, S Ralston

Research output: Contribution to journalArticle

39 Citations (Scopus)

Abstract

Mutations in the UBA domain of SQSTM1 are a common cause of Paget's disease of bone. Here we show that the most common disease-causing mutation (P392L) is carried on a shared haplotype, consistent with a founder effect and a common ancestral origin.

Original languageEnglish
Pages (from-to)227-231
Number of pages5
JournalJournal of Bone and Mineral Research
Volume20
Issue number2
Early online date16 Nov 2004
DOIs
Publication statusPublished - Feb 2005

Keywords

  • Paget's disease of bone
  • genetic
  • SQSTM1
  • haplotype
  • founder effect
  • genetic-heterogeneity
  • familial aggregation
  • chromosome 18Q
  • identification
  • Netherlands
  • prevalence
  • linkage
  • loci

Cite this

Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone : Evidence for a Founder Effect in Patients of British Descent. / Lucas, Gavin; Hocking, Lynne; Daroszewska, Anna; Cundy, T.; Nicholson, G. C.; Walsh, J. P.; Fraser, W. D.; Meier, C.; Hooper, M. J.; Ralston, S.

In: Journal of Bone and Mineral Research, Vol. 20, No. 2, 02.2005, p. 227-231.

Research output: Contribution to journalArticle

Lucas, G, Hocking, L, Daroszewska, A, Cundy, T, Nicholson, GC, Walsh, JP, Fraser, WD, Meier, C, Hooper, MJ & Ralston, S 2005, 'Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: Evidence for a Founder Effect in Patients of British Descent', Journal of Bone and Mineral Research, vol. 20, no. 2, pp. 227-231. https://doi.org/10.1359/JBMR.041106
Lucas, Gavin ; Hocking, Lynne ; Daroszewska, Anna ; Cundy, T. ; Nicholson, G. C. ; Walsh, J. P. ; Fraser, W. D. ; Meier, C. ; Hooper, M. J. ; Ralston, S. / Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone : Evidence for a Founder Effect in Patients of British Descent. In: Journal of Bone and Mineral Research. 2005 ; Vol. 20, No. 2. pp. 227-231.
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